##gff-version 3 P05186 UniProtKB Signal peptide 1 17 . . . Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1458595,ECO:0000269|PubMed:3954357;Dbxref=PMID:1458595,PMID:3954357 P05186 UniProtKB Chain 18 501 . . . ID=PRO_0000024023;Note=Alkaline phosphatase%2C tissue-nonspecific isozyme P05186 UniProtKB Propeptide 502 524 . . . ID=PRO_0000024024;Note=Removed in mature form;Ontology_term=ECO:0000305;evidence=ECO:0000305 P05186 UniProtKB Active site 110 110 . . . Note=Phosphoserine intermediate;Ontology_term=ECO:0000250,ECO:0000255;evidence=ECO:0000250|UniProtKB:P05187,ECO:0000255|PROSITE-ProRule:PRU10042 P05186 UniProtKB Binding site 60 60 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 60 60 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 110 110 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 173 173 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 235 235 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11395499;Dbxref=PMID:11395499 P05186 UniProtKB Binding site 290 290 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11395499;Dbxref=PMID:11395499 P05186 UniProtKB Binding site 291 291 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11395499;Dbxref=PMID:11395499 P05186 UniProtKB Binding site 306 306 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11395499;Dbxref=PMID:11395499 P05186 UniProtKB Binding site 332 332 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 337 337 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 341 341 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 378 378 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 379 379 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Binding site 454 454 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Modified residue 110 110 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P09242 P05186 UniProtKB Lipidation 501 501 . . . Note=GPI-anchor amidated serine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P05186 UniProtKB Glycosylation 140 140 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P05186 UniProtKB Glycosylation 230 230 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P05186 UniProtKB Glycosylation 271 271 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P05186 UniProtKB Glycosylation 303 303 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P05186 UniProtKB Glycosylation 430 430 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 P05186 UniProtKB Disulfide bond 139 201 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Disulfide bond 489 497 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P05187 P05186 UniProtKB Alternative sequence 1 99 . . . ID=VSP_042711;Note=In isoform 2. MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHNPGEETRLEMDKFPFVALSK->MPWSFRSSTPTWLRMSSCSWEM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P05186 UniProtKB Alternative sequence 1 55 . . . ID=VSP_044228;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P05186 UniProtKB Natural variant 17 17 . . . ID=VAR_025903;Note=In HOPS. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9781036;Dbxref=PMID:9781036 P05186 UniProtKB Natural variant 28 28 . . . ID=VAR_013972;Note=In HPPI%3B 7%25 of activity. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=PMID:11438998 P05186 UniProtKB Natural variant 33 33 . . . ID=VAR_006147;Note=In HOPS%3B strongly reduced alkaline phosphatase activity. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:1409720,ECO:0000269|PubMed:15694177;Dbxref=dbSNP:rs121918005,PMID:12162492,PMID:1409720,PMID:15694177 P05186 UniProtKB Natural variant 40 40 . . . ID=VAR_011081;Note=In HOPS%3B 2%25 of activity. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:11479741,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs770093969,PMID:10332035,PMID:10679946,PMID:11438998,PMID:11479741,PMID:9781036 P05186 UniProtKB Natural variant 51 51 . . . ID=VAR_025904;Note=In HOPS. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11855933;Dbxref=PMID:11855933 P05186 UniProtKB Natural variant 51 51 . . . ID=VAR_013973;Note=In HOPS. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=dbSNP:rs1470389268,PMID:11438998 P05186 UniProtKB Natural variant 62 62 . . . ID=VAR_006148;Note=In HOPS%3B moderate%3B 27%25 of activity. M->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035;Dbxref=PMID:10094560,PMID:10332035 P05186 UniProtKB Natural variant 62 62 . . . ID=VAR_025905;Note=In HOPS. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=PMID:12815606 P05186 UniProtKB Natural variant 63 63 . . . ID=VAR_025906;Note=In HOPS. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=PMID:12815606 P05186 UniProtKB Natural variant 63 63 . . . ID=VAR_013974;Note=In HOPS%3B loss of activity. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11479741;Dbxref=PMID:11479741 P05186 UniProtKB Natural variant 68 68 . . . ID=VAR_025907;Note=In HPPC%3B severe allele. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11760847;Dbxref=PMID:11760847 P05186 UniProtKB Natural variant 71 71 . . . ID=VAR_006149;Note=In HOPS%3B abolished alkaline phosphatase activity. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:1409720,ECO:0000269|PubMed:19500388;Dbxref=dbSNP:rs121918001,PMID:12162492,PMID:1409720,PMID:19500388 P05186 UniProtKB Natural variant 71 71 . . . ID=VAR_013975;Note=In HOPS%3B loss of alkaline phosphatase activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:19500388;Dbxref=dbSNP:rs121918003,PMID:11438998,PMID:11855933,PMID:19500388 P05186 UniProtKB Natural variant 71 71 . . . ID=VAR_006150;Note=In HOPS%3B abolished alkaline phosphatase activity. R->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:1409720;Dbxref=dbSNP:rs121918003,PMID:12162492,PMID:1409720 P05186 UniProtKB Natural variant 71 71 . . . ID=VAR_025908;Note=In HPPC%3B severe allele. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11760847;Dbxref=dbSNP:rs121918001,PMID:11760847 P05186 UniProtKB Natural variant 75 75 . . . ID=VAR_013976;Note=In HOPS%3B severe%3B 3.5%25 of activity. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs1304394441,PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 76 76 . . . ID=VAR_025909;Note=In HOPS. Q->R;Dbxref=dbSNP:rs1057521085 P05186 UniProtKB Natural variant 82 82 . . . ID=VAR_085155;Note=In HOPS%3B dominant-negative mutant%3B abolished alkaline phosphatase activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33821301;Dbxref=PMID:33821301 P05186 UniProtKB Natural variant 108 108 . . . ID=VAR_025910;Note=In HOPS%3B 0.4%25 of alkaline phosphatase activity%3B severe allele%3B no effect on subcellular location%3B fails to assemble into dimeric structure%3B dominant negative effect. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12920074,ECO:0000269|PubMed:25982064;Dbxref=dbSNP:rs121918015,PMID:12920074,PMID:25982064 P05186 UniProtKB Natural variant 111 111 . . . ID=VAR_006151;Note=In HOPS%3B odonto%3B abolished alkaline phosphatase activity. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:12815606,ECO:0000269|PubMed:19500388,ECO:0000269|PubMed:9452105;Dbxref=dbSNP:rs773257111,PMID:10332035,PMID:10679946,PMID:11855933,PMID:12162492,PMID:12815606,PMID:19500388,PMID:9452105 P05186 UniProtKB Natural variant 114 114 . . . ID=VAR_025911;Note=In HOPS. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15135428;Dbxref=PMID:15135428 P05186 UniProtKB Natural variant 116 116 . . . ID=VAR_013977;Note=In HOPS%3B loss of alkaline phosphatase activity. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:11479741,ECO:0000269|PubMed:12920074,ECO:0000269|PubMed:25982064;Dbxref=dbSNP:rs121918013,PMID:11438998,PMID:11479741,PMID:12920074,PMID:25982064 P05186 UniProtKB Natural variant 120 120 . . . ID=VAR_013978;Note=In HOPS. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs954135116,PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 128 128 . . . ID=VAR_025912;Note=In HOPS. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11855933;Dbxref=dbSNP:rs1159854007,PMID:11855933 P05186 UniProtKB Natural variant 129 129 . . . ID=VAR_013979;Note=In HOPS. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 132 132 . . . ID=VAR_013146;Note=In HOPS%3B strongly reduced alkaline phosphatase activity. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11834095,ECO:0000269|PubMed:12162492;Dbxref=PMID:11834095,PMID:12162492 P05186 UniProtKB Natural variant 134 134 . . . ID=VAR_025913;Note=In HOPS%3B requires 2 nucleotide substitutions. T->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11855933;Dbxref=dbSNP:rs786204530,PMID:11855933 P05186 UniProtKB Natural variant 134 134 . . . ID=VAR_011082;Note=In HOPS%3B 9%25 of activity. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10679946;Dbxref=dbSNP:rs780583917,PMID:10679946 P05186 UniProtKB Natural variant 136 136 . . . ID=VAR_006152;Note=In HOPS%3B moderate%3B 33%25 of activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:15694177;Dbxref=dbSNP:rs121918011,PMID:10094560,PMID:10332035,PMID:11438998,PMID:11855933,PMID:15694177 P05186 UniProtKB Natural variant 148 148 . . . ID=VAR_025914;Note=In HOPS. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=dbSNP:rs1376937780,PMID:12815606 P05186 UniProtKB Natural variant 152 152 . . . ID=VAR_085156;Note=In HOPS%3B uncertain significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23791648;Dbxref=PMID:23791648 P05186 UniProtKB Natural variant 152 152 . . . ID=VAR_013980;Note=In HOPS%3B benign%3B lethal form. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11438998,ECO:0000269|Ref.6;Dbxref=dbSNP:rs149344982,PMID:11438998 P05186 UniProtKB Natural variant 162 162 . . . ID=VAR_025915;Note=In HOPS. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=dbSNP:rs760029254,PMID:12815606 P05186 UniProtKB Natural variant 162 162 . . . ID=VAR_006153;Note=In HOPS%3B severe%3B 1%25 of activity. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035;Dbxref=dbSNP:rs121918012,PMID:10094560,PMID:10332035 P05186 UniProtKB Natural variant 170 170 . . . ID=VAR_013981;Note=In HOPS. N->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 171 171 . . . ID=VAR_025916;Note=In HOPS. H->R;Dbxref=dbSNP:rs778232217 P05186 UniProtKB Natural variant 171 171 . . . ID=VAR_006154;Note=In HOPS%3B severe%3B 2%25 of activity. H->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035;Dbxref=PMID:10094560,PMID:10332035 P05186 UniProtKB Natural variant 176 176 . . . ID=VAR_011083;Note=In HOPS%3B 30%25 of alkaline phosphatase activity. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:19500388;Dbxref=dbSNP:rs121918019,PMID:10679946,PMID:11438998,PMID:11855933,PMID:19500388 P05186 UniProtKB Natural variant 177 177 . . . ID=VAR_006155;Note=In HOPS and HPPC%3B moderate allele%3B normal alkaline phosphatase activity toward diphosphate and increased activity toward pyridoxal 5'-phosphate. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11760847,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:9452105;Dbxref=dbSNP:rs199669988,PMID:11760847,PMID:12162492,PMID:9452105 P05186 UniProtKB Natural variant 179 179 . . . ID=VAR_006156;Note=In HOPS%3B reduced alkaline phosphatase activity toward diphosphate and pyridoxal 5'-phosphate. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:3174660;Dbxref=dbSNP:rs121918000,PMID:11438998,PMID:12162492,PMID:3174660 P05186 UniProtKB Natural variant 181 181 . . . ID=VAR_013982;Note=In HOPS%3B 1%25 of activity. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11479741;Dbxref=dbSNP:rs199590449,PMID:11479741 P05186 UniProtKB Natural variant 184 184 . . . ID=VAR_013983;Note=In HOPS%3B loss of activity. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:11479741,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs763159520,PMID:10332035,PMID:11479741,PMID:9781036 P05186 UniProtKB Natural variant 188 188 . . . ID=VAR_085157;Note=In HOPS%3B uncertain significance. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30083035;Dbxref=PMID:30083035 P05186 UniProtKB Natural variant 189 189 . . . ID=VAR_025917;Note=In HOPS. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=PMID:12815606 P05186 UniProtKB Natural variant 191 191 . . . ID=VAR_006157;Note=In HOPS%3B odonto%3B slightly reduced alkaline phosphatase activity. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:9452105;Dbxref=PMID:12162492,PMID:9452105 P05186 UniProtKB Natural variant 191 191 . . . ID=VAR_006158;Note=In HOPS%3B moderate%3B frequent mutation in European countries%3B slightly reduced alkaline phosphatase activity. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:1409720,ECO:0000269|PubMed:19500388,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs121918007,PMID:10094560,PMID:10332035,PMID:10679946,PMID:11438998,PMID:11855933,PMID:12162492,PMID:1409720,PMID:19500388,PMID:9781036 P05186 UniProtKB Natural variant 201 201 . . . ID=VAR_006159;Note=In HOPS%3B weak alkaline phosphatase activity%3B severely affects homodimerization%3B reduced cell surface expression. C->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:22266140;Dbxref=PMID:10094560,PMID:10679946,PMID:22266140 P05186 UniProtKB Natural variant 207 207 . . . ID=VAR_006160;Note=In HOPS. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1409720;Dbxref=dbSNP:rs121918004,PMID:1409720 P05186 UniProtKB Natural variant 211 211 . . . ID=VAR_013984;Note=In HOPS. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=PMID:11438998 P05186 UniProtKB Natural variant 212 212 . . . ID=VAR_025918;Note=In HOPS. I->F P05186 UniProtKB Natural variant 218 218 . . . ID=VAR_085158;Note=In HOPS%3B uncertain significance. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32983484;Dbxref=PMID:32983484 P05186 UniProtKB Natural variant 220 220 . . . ID=VAR_025919;Note=In HOPS. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=PMID:12815606 P05186 UniProtKB Natural variant 220 220 . . . ID=VAR_013985;Note=In HOPS%3B odonto. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=PMID:11438998 P05186 UniProtKB Natural variant 223 223 . . . ID=VAR_025920;Note=In HOPS. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:15694177;Dbxref=dbSNP:rs199665722,PMID:11855933,PMID:15694177 P05186 UniProtKB Natural variant 223 223 . . . ID=VAR_013986;Note=In HOPS and HPPC%3B severe allele%3B abolished alkaline phosphatase activity. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:11479741,ECO:0000269|PubMed:11760847,ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:15694177,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs766076920,PMID:10332035,PMID:11479741,PMID:11760847,PMID:11855933,PMID:12162492,PMID:15694177,PMID:9781036 P05186 UniProtKB Natural variant 224 224 . . . ID=VAR_011084;Note=In HPPI%3B partial loss of activity. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10834525;Dbxref=dbSNP:rs1226800998,PMID:10834525 P05186 UniProtKB Natural variant 235 235 . . . ID=VAR_013987;Note=In HOPS. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=PMID:11438998 P05186 UniProtKB Natural variant 246 246 . . . ID=VAR_011085;Note=In HOPS%3B 4%25 of activity. R->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:11855933;Dbxref=dbSNP:rs1223142821,PMID:10679946,PMID:11855933 P05186 UniProtKB Natural variant 249 249 . . . ID=VAR_013988;Note=In HOPS%3B partial loss of activity. G->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:11479741;Dbxref=dbSNP:rs121918018,PMID:10094560,PMID:10332035,PMID:11479741 P05186 UniProtKB Natural variant 263 263 . . . ID=VAR_006161;Note=Y->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:1409720,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:2928120,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs3200254,PMID:11855933,PMID:1409720,PMID:15489334,PMID:2928120,PMID:9781036 P05186 UniProtKB Natural variant 272 272 . . . ID=VAR_025921;Note=In HOPS%3B 6.8%25 of wild-type activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15694177;Dbxref=dbSNP:rs781272386,PMID:15694177 P05186 UniProtKB Natural variant 272 272 . . . ID=VAR_025922;Note=In HOPS. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=dbSNP:rs781272386,PMID:12815606 P05186 UniProtKB Natural variant 275 275 . . . ID=VAR_025923;Note=In HPPC%3B severe allele. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11760847;Dbxref=dbSNP:rs1237252052,PMID:11760847 P05186 UniProtKB Natural variant 289 289 . . . ID=VAR_006162;Note=In HOPS. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9747027;Dbxref=PMID:9747027 P05186 UniProtKB Natural variant 291 291 . . . ID=VAR_013989;Note=In HOPS%3B moderate%3B 8%25 of activity. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:11999978,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs786204473,PMID:10332035,PMID:11999978,PMID:9781036 P05186 UniProtKB Natural variant 292 292 . . . ID=VAR_025924;Note=In HOPS%3B 4%25 of wild-type activity. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15694177;Dbxref=dbSNP:rs765458125,PMID:15694177 P05186 UniProtKB Natural variant 293 294 . . . ID=VAR_025925;Note=In HOPS. Missing P05186 UniProtKB Natural variant 294 294 . . . ID=VAR_006163;Note=In HOPS%3B reduced alkaline phosphatase toward diphosphate and pyridoxal 5'-phosphate. D->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:1409720,ECO:0000269|PubMed:15694177;Dbxref=dbSNP:rs121918002,PMID:11855933,PMID:12162492,PMID:1409720,PMID:15694177 P05186 UniProtKB Natural variant 294 294 . . . ID=VAR_013990;Note=In HOPS. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=dbSNP:rs1553414079,PMID:11438998 P05186 UniProtKB Natural variant 295 295 . . . ID=VAR_025926;Note=In HOPS%3B 8.5%25 of wild-type activity. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15694177;Dbxref=dbSNP:rs1220125702,PMID:15694177 P05186 UniProtKB Natural variant 297 297 . . . ID=VAR_025927;Note=In HOPS%3B 1.3%25 of wild-type activity. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15694177;Dbxref=PMID:15694177 P05186 UniProtKB Natural variant 298 298 . . . ID=VAR_025928;Note=In HPPI%3B does not affect alkaline phosphatase activity. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:7833929;Dbxref=dbSNP:rs121918017,PMID:12162492,PMID:7833929 P05186 UniProtKB Natural variant 299 299 . . . ID=VAR_025929;Note=In HOPS. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11855933;Dbxref=PMID:11855933 P05186 UniProtKB Natural variant 306 306 . . . ID=VAR_006164;Note=In HOPS. D->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035;Dbxref=PMID:10094560,PMID:10332035 P05186 UniProtKB Natural variant 311 311 . . . ID=VAR_025930;Note=In HOPS. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=dbSNP:rs763457259,PMID:12815606 P05186 UniProtKB Natural variant 326 326 . . . ID=VAR_013991;Note=In HOPS%3B in a patient carrying also K-291. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11999978;Dbxref=PMID:11999978 P05186 UniProtKB Natural variant 327 327 . . . ID=VAR_013992;Note=In HOPS%3B requires 2 nucleotide substitutions. F->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=PMID:11438998 P05186 UniProtKB Natural variant 327 327 . . . ID=VAR_006165;Note=In HOPS and HPPI. F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8954059,ECO:0000269|PubMed:9452105;Dbxref=dbSNP:rs121918010,PMID:8954059,PMID:9452105 P05186 UniProtKB Natural variant 327 327 . . . ID=VAR_025931;Note=In HOPS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11855933;Dbxref=PMID:11855933 P05186 UniProtKB Natural variant 334 334 . . . ID=VAR_006166;Note=In HOPS%3B abolished alkaline phosphatase activity. G->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:15694177,ECO:0000269|PubMed:19500388,ECO:0000269|PubMed:8406453,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs121918009,PMID:10332035,PMID:12162492,PMID:15694177,PMID:19500388,PMID:8406453,PMID:9781036 P05186 UniProtKB Natural variant 334 334 . . . ID=VAR_075557;Note=In HOPS%3B weak alkaline phosphatase activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19500388;Dbxref=PMID:19500388 P05186 UniProtKB Natural variant 339 339 . . . ID=VAR_025932;Note=In HOPS%3B loss of alkaline phosphatase activity. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:19500388;Dbxref=PMID:11855933,PMID:19500388 P05186 UniProtKB Natural variant 348 348 . . . ID=VAR_011086;Note=In HOPS. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:11855933;Dbxref=dbSNP:rs1553414563,PMID:10679946,PMID:11855933 P05186 UniProtKB Natural variant 354 354 . . . ID=VAR_025933;Note=In HOPS. E->D;Dbxref=dbSNP:rs1553414568 P05186 UniProtKB Natural variant 378 378 . . . ID=VAR_006167;Note=In HOPS%3B strongly reduced alkaline phosphatase activity. D->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10690885,ECO:0000269|PubMed:11479741,ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:1409720;Dbxref=dbSNP:rs121918008,PMID:10690885,PMID:11479741,PMID:11855933,PMID:12162492,PMID:1409720 P05186 UniProtKB Natural variant 381 381 . . . ID=VAR_011087;Note=In HOPS. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10679946;Dbxref=PMID:10679946 P05186 UniProtKB Natural variant 382 382 . . . ID=VAR_006168;Note=In HOPS%3B abolished alkaline phosphatase activity. V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:19500388,ECO:0000269|PubMed:9452105;Dbxref=dbSNP:rs771540767,PMID:12162492,PMID:19500388,PMID:9452105 P05186 UniProtKB Natural variant 391 391 . . . ID=VAR_013993;Note=In HOPS%3B moderate%3B 4-10%25 of alkaline phosphatase activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:19500388;Dbxref=dbSNP:rs371243939,PMID:10332035,PMID:19500388 P05186 UniProtKB Natural variant 391 391 . . . ID=VAR_025934;Note=In HPPC and HOPS%3B severe allele%3B loss of alkaline phosphatase activity. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11760847,ECO:0000269|PubMed:19500388;Dbxref=dbSNP:rs1442918125,PMID:11760847,PMID:19500388 P05186 UniProtKB Natural variant 399 399 . . . ID=VAR_013994;Note=In HOPS. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=PMID:11438998 P05186 UniProtKB Natural variant 406 406 . . . ID=VAR_011088;Note=In HOPS%3B 15%25 of activity. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10679946;Dbxref=PMID:10679946 P05186 UniProtKB Natural variant 411 411 . . . ID=VAR_025935;Note=In HOPS%3B absence of residual enzymatic activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15694177;Dbxref=PMID:15694177 P05186 UniProtKB Natural variant 414 414 . . . ID=VAR_025936;Note=In HOPS%3B loss of alkaline phosphatase activity. L->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11855933,ECO:0000269|PubMed:12920074,ECO:0000269|PubMed:19500388;Dbxref=PMID:11855933,PMID:12920074,PMID:19500388 P05186 UniProtKB Natural variant 417 417 . . . ID=VAR_025937;Note=In HOPS%3B very low alkaline phosphatase activity%3B does not affect subcellular location%3B fails to assemble into dimeric structure. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11745997,ECO:0000269|PubMed:23688511;Dbxref=dbSNP:rs121918014,PMID:11745997,PMID:23688511 P05186 UniProtKB Natural variant 420 420 . . . ID=VAR_075558;Note=In HOPS%3B very low alkaline phosphatase activity%3B does not affect subcellular location. G->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19500388,ECO:0000269|PubMed:23039266;Dbxref=PMID:19500388,PMID:23039266 P05186 UniProtKB Natural variant 420 420 . . . ID=VAR_075559;Note=In HOPS%3B very low alkaline phosphatase activity%3B does not affect subcellular location. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23039266;Dbxref=PMID:23039266 P05186 UniProtKB Natural variant 423 423 . . . ID=VAR_013995;Note=In HOPS%3B 16%25 alkaline of phosphatase activity. V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11438998,ECO:0000269|PubMed:23039266;Dbxref=PMID:11438998,PMID:23039266 P05186 UniProtKB Natural variant 426 426 . . . ID=VAR_011089;Note=In HPPI%3B partial loss of activity. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10834525;Dbxref=PMID:10834525 P05186 UniProtKB Natural variant 426 426 . . . ID=VAR_025938;Note=In HOPS. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11855933;Dbxref=PMID:11855933 P05186 UniProtKB Natural variant 436 436 . . . ID=VAR_006169;Note=In HOPS. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1409720;Dbxref=dbSNP:rs121918006,PMID:1409720 P05186 UniProtKB Natural variant 440 440 . . . ID=VAR_085159;Note=In HOPS%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23791648;Dbxref=PMID:23791648 P05186 UniProtKB Natural variant 445 445 . . . ID=VAR_013996;Note=In HOPS%3B severe%3B 2%25 of activity. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs1553415041,PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 450 450 . . . ID=VAR_013997;Note=In HOPS%3B severe%3B 4%25 of activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs138690664,PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 450 450 . . . ID=VAR_011090;Note=In HOPS. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10679946;Dbxref=dbSNP:rs150799088,PMID:10679946 P05186 UniProtKB Natural variant 452 452 . . . ID=VAR_025939;Note=In HOPS%3B loss of alkaline phosphatase activity. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12815606,ECO:0000269|PubMed:19500388;Dbxref=dbSNP:rs966212736,PMID:12815606,PMID:19500388 P05186 UniProtKB Natural variant 456 456 . . . ID=VAR_011091;Note=In HPPI and HOPS%3B strongly reduced alkaline phosphatase activity. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12162492,ECO:0000269|PubMed:8954059;Dbxref=dbSNP:rs121918016,PMID:12162492,PMID:8954059 P05186 UniProtKB Natural variant 459 459 . . . ID=VAR_075560;Note=In HOPS%3B loss of alkaline phosphatase activity. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19500388;Dbxref=PMID:19500388 P05186 UniProtKB Natural variant 459 459 . . . ID=VAR_013998;Note=In HPPI. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11438998;Dbxref=dbSNP:rs1054159992,PMID:11438998 P05186 UniProtKB Natural variant 468 468 . . . ID=VAR_025940;Note=In HOPS. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12815606;Dbxref=dbSNP:rs1196976671,PMID:12815606 P05186 UniProtKB Natural variant 473 473 . . . ID=VAR_013999;Note=In HOPS. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 476 476 . . . ID=VAR_075561;Note=In HOPS%3B loss of alkaline phosphatase activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19500388;Dbxref=PMID:19500388 P05186 UniProtKB Natural variant 476 476 . . . ID=VAR_006170;Note=In HOPS. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10094560,ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:11855933;Dbxref=PMID:10094560,PMID:10332035,PMID:11855933 P05186 UniProtKB Natural variant 478 478 . . . ID=VAR_011092;Note=In HOPS%3B 9%25 of activity. N->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:11479741;Dbxref=PMID:10679946,PMID:11479741 P05186 UniProtKB Natural variant 489 489 . . . ID=VAR_011093;Note=In HOPS%3B reduces alkaline phosphatase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10679946,ECO:0000269|PubMed:22266140;Dbxref=PMID:10679946,PMID:22266140 P05186 UniProtKB Natural variant 490 490 . . . ID=VAR_014000;Note=In HOPS%3B odonto%3B partial loss of activity. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11479741;Dbxref=PMID:11479741 P05186 UniProtKB Natural variant 491 491 . . . ID=VAR_014001;Note=In HOPS. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10332035,ECO:0000269|PubMed:9781036;Dbxref=dbSNP:rs1413274209,PMID:10332035,PMID:9781036 P05186 UniProtKB Natural variant 522 522 . . . ID=VAR_011094;Note=V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10690885,ECO:0000269|PubMed:11760847,ECO:0000269|PubMed:11855933;Dbxref=dbSNP:rs34605986,PMID:10690885,PMID:11760847,PMID:11855933 P05186 UniProtKB Mutagenesis 235 235 . . . Note=Abolished alkaline phosphatase activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25775211;Dbxref=PMID:25775211 P05186 UniProtKB Mutagenesis 270 270 . . . Note=Reduced alkaline phosphatase activity. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25775211;Dbxref=PMID:25775211 P05186 UniProtKB Mutagenesis 272 272 . . . Note=Reduced alkaline phosphatase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25775211;Dbxref=PMID:25775211 P05186 UniProtKB Mutagenesis 290 290 . . . Note=Abolished alkaline phosphatase activity. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25775211;Dbxref=PMID:25775211 P05186 UniProtKB Mutagenesis 291 291 . . . Note=Reduced alkaline phosphatase activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25775211;Dbxref=PMID:25775211 P05186 UniProtKB Mutagenesis 306 306 . . . Note=Abolished alkaline phosphatase activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25775211;Dbxref=PMID:25775211 P05186 UniProtKB Sequence conflict 29 29 . . . Note=W->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P05186 UniProtKB Sequence conflict 104 104 . . . Note=N->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 P05186 UniProtKB Sequence conflict 361 361 . . . Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P05186 UniProtKB Sequence conflict 446 446 . . . Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305